Pediatric Epidermolysis Bullosa Workup

Updated: Feb 07, 2017
  • Author: Surasak Puvabanditsin, MD; Chief Editor: Dirk M Elston, MD  more...
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Workup

Laboratory Studies

Transmission electron microscopy

Electron microscopy determines the level of skin cleavage in epidermolysis bullosa (EB) and permits visualization and semiquantitative assessment of specific structures, which are known to be altered in selected epidermolysis bullosa subtypes. See the image below.

Electron micrograph of a skin sample shows cleavag Electron micrograph of a skin sample shows cleavage in the intralaminar lucida in a neonate with junctional epidermolysis bullosa (JEB).

Very few highly proficient electron microscopy laboratories are now available worldwide.

Immunofluorescence mapping (IFM)

IFM is as diagnostically reliable as transmission electron microscopy for several type of epidermolysis bullosa. IFM, when coupled with the use of specific monoclonal antibodies, can provide considerable insight into not only the major type of epidermolysis bullosa but also into the structural protein most likely mutated.

Mutation analysis

Mutation analysis is the ultimate means of determining the mode of inheritance and the precise site and type of molecular mutation. It is the recommended technique; prenatal and preimplantation diagnosis can be performed. It is very labor intensive and expensive to perform, currently only a few research or commercial laboratories are equipped to perform this analysis.

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Imaging Studies

Radiography may indirectly help in diagnosis of certain types of epidermolysis bullosa with associated abnormalities, such as pyloric atresia (PA) or genitourinary obstruction. See the images below.

Contrast-enhanced radiograph of the abdomen sugges Contrast-enhanced radiograph of the abdomen suggestive of pyloric atresia (PA) in a patient with junctional epidermolysis bullosa (JEB). The association between PA and EB is a distinct entity and is now referred to as PA-EB syndrome.
Abdominal radiography revealing a single gastric b Abdominal radiography revealing a single gastric bubble in a neonate with pyloric atresia (PA) and junctional epidermolysis bullosa (JEB).
Severe right hydronephrosis in a neonate with junc Severe right hydronephrosis in a neonate with junctional epidermolysis bullosa (JEB).
Genitourinary obstruction in a fetus with junction Genitourinary obstruction in a fetus with junctional epidermolysis bullosa (JEB). Prenatal ultrasonography reveals severe right hydronephrosis.
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Histologic Findings

Electron microscopy in the 1970s revealed abnormal epidermal keratin filaments in epidermolysis bullosa simplex (EBS), disordered dermal anchoring fibrils in dystrophic epidermolysis bullosa, and defective hemidesmosomes in junctional epidermolysis bullosa. Epidermolysis bullosa has approximately 30 different subtypes.

For other microscopic features, see Causes in Presentation.

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